A Pilot Study to Assess Feasibility of Adipose Tissue Triglyceride (TG) Labelling in Familial Partial Lipodystrophy (FPLD)
Background: People with familial partial lipodystrophy (FPLD) do not store fat in the body normally. This can lead to serious illnesses such as diabetes and heart disease. To learn more about FPLD, researchers want to compare the fat tissue in people with this disease to the fat tissue of healthy people.
Objective: To collect and analyze samples of fat tissue in people with and without FPLD.
Eligibility: People aged 18 to 65 years with FPLD. Healthy adults are also needed.
Design: Participants will be screened. They will have a physical exam. The size and shape of their body will be measured. They will have an imaging scan to measure their bones, muscle, and fat. Participants will be given heavy water to drink at home. The water contains a tracer to help measure the fat in their blood. They will drink 1 vial 3 times a day. After drinking the water for 9 days, participants will come to the clinic for a 3-day stay. They will eat only foods provided by the hospital; the foods will contain tracers. A needle will be inserted into a vein in the arm; participants will receive infusions of other tracers through this needle into their blood; this needle will also be used to draw blood samples for testing. On their third day in the clinic, participants will have biopsies: Small samples of fat will be removed from under the skin on the belly and thigh. Participants may return for a follow-up visit 8 days after leaving the clinic. Blood draws and fat tissue biopsies will be repeated.
⁃ Common inclusion criteria (FPLD and Controls):
⁃ In order to be eligible to participate in this study, an individual must meet all of the following criteria:
• Stated willingness to comply with all study procedures and availability for the duration of the study
• Age \>= 18 and \<= 65 years
• Agreement to adhere to Lifestyle Considerations throughout study duration.
• Weight stability (per the subject) within approximately 3 kg in the 3 months prior to screening, with no plans to actively gain or lose weight during the study period.
⁃ FPLD-specific inclusion criteria:
• Clinical diagnosis of partial lipodystrophy based on reduction in adipose tissue outside the normal range in selected adipose depots (including, at a minimum, the gluteofemoral depot) with preservation of adipose tissue in other depots.
• Adequate abdominal and thigh adipose tissue for feasible subcutaneous fat biopsy, as judged by the investigator.
⁃ CONTROL MATCHING CRITERIA:
⁃ When possible, control subjects will be individuals matched 1:1 with the FPLD subjects based on the following criteria (in order of priority). These criteria will be considered when assessing eligibility but are not strict inclusion criteria.
• Sex
• Age plus-minus 5 years
• Diabetic status
• Abdominal circumference plus-minus 10 cm
• Height plus-minus 5 cm